Septo-optic dysplasia in an infant

Ermira Aliu, MD; Juna Musa, MD, MSc; Anusha Parisapogu, MBBS; Erisa Kola, MD; Fjolla Hyseni, MD; Ina Kola, MD; Alejandro Obando Blandón, MD; Pooja Roy, MD; Kampa Prathima, MD; Chandalji Naik Banavath, MD; Pooja Kumbha, MD; Shaik Mashood Tappa, MD; Jasmine Saini, MD; Srikrishnan Pichuthirumalai, MD; Ilir Ahmetgjekaj, Assoc. Prof. Dr

Radiology Case Reports (Sep 2022)

Septo-optic dysplasia in an infant

Ermira Aliu, MD,
Juna Musa, MD, MSc,
Anusha Parisapogu, MBBS,
Erisa Kola, MD,
Fjolla Hyseni, MD,
Ina Kola, MD,
Alejandro Obando Blandón, MD,
Pooja Roy, MD,
Kampa Prathima, MD,
Chandalji Naik Banavath, MD,
Pooja Kumbha, MD,
Shaik Mashood Tappa, MD,
Jasmine Saini, MD,
Srikrishnan Pichuthirumalai, MD,
Ilir Ahmetgjekaj, Assoc. Prof. Dr

Affiliations

Ermira Aliu, MD: Women's Center for Radiology, Orlando, USA
Juna Musa, MD, MSc: Department of Endocrinology, Diabetes and Nutrition, Mayo Clinic, Rochester, MN, USA; Corresponding author.
Anusha Parisapogu, MBBS: Department of Infectious Diseases, Mayo Clinic, Rochester, MN, USA
Erisa Kola, MD: Department of Pathology, Gjirokaster Hospital, Gjirokaster, Albania
Fjolla Hyseni, MD: Department of Urology, NYU Langone Health, New York, USA
Ina Kola, MD: Department of Burns and Plastic Surgery, Mother Teresa University Hospital Center, Tirana, Albania
Alejandro Obando Blandón, MD: Hospital Vivian Pellas/Hospital Bautista, Managua, Nicaragua
Pooja Roy, MD: Department of Laboratory medicine & Pathology, Mayo Clinic, Rochester, MN
Kampa Prathima, MD: Andhra Medical College, Andhra Pradesh, India
Chandalji Naik Banavath, MD: Guntur Medical College, Andhra Pradesh, India
Pooja Kumbha, MD: Department of Internal Medicine, Guntur Medical College, Andhra Pradesh, India
Shaik Mashood Tappa, MD: NMC Royal Hospital, Dubai, UAE
Jasmine Saini, MD: Department of Endocrinology, Mayo Clinic, Rochester, MN, USA
Srikrishnan Pichuthirumalai, MD: Sakra World Hospital, Bengaluru, India
Ilir Ahmetgjekaj, Assoc. Prof. Dr: Department of Radiology, Diagnostic Center, UCCK, Pristine City, Kosovo

Journal volume & issue: Vol. 17, no. 9
pp. 3147 – 3150

Abstract

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Septo-optic dysplasia (SOD) is a rare congenital disorder occurring in only 1 in 10,000 live births. Initially it was described in 1941 by Reeves and further discussed by the French-Swiss neurologist de Morsier (1956) as the disease further addressed his name. SOD is a combination of triads of hypoplasia of the optic nerve, agenesis of midline brain structures, and hypoplasia of the hypothalamic-pituitary axis. The pathophysiology of this rare congenital anomaly is yet to be understood, with some hypotheses in order to establish the diagnosis. The management modality depends on the presentation of the disease and requires a multidisciplinary approach. While most SOD patients present with visual, neurological, or endocrine abnormalities, in our case the patient was diagnosed incidentally while following up after an episode of acute respiratory distress syndrome and sepsis. We aim to highlight the aspects of clinical presentation in a patient with SOD and the importance of a multimodality follow-up approach.

Published in Radiology Case Reports

ISSN: 1930-0433 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Medicine (General): Medical physics. Medical radiology. Nuclear medicine
Website: http://www.journals.elsevier.com/radiology-case-reports/

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